A. Omezzine

Association between ABCB1 polymorphisms and response to first-generation antiepileptic drugs in a Tunisian epileptic population

ABSTRACT Purpose: We aimed in this study to investigate the association between the ATP-Binding Cassette sub-family B, member1 (ABCB1) polymorphisms: C1236T (rs1128503), G2677T (rs2032582) and C3435T (rs1045642), and the resistance to antiepileptic drugs (AEDs). Materials and methods: The Polymerase Chain Reaction–Restriction Fragment Length Polymorphism genotyping of ABCB1 polymorphisms was conducted on 153 Tunisian epileptic patients treated with AEDs. Results: Two genetic polymorphisms of the ABCB1 gene seemed to influence the response to AEDs. In fact, the G2677T T and the C3435T T alleles appeared to increase the risk of developing AEDs resistance (ORs* = 3.13; 95%CI = [1.16–8.98]; p = 0.024 and ORs* = 3.10; 95%CI = [1.15–8.37]; p = 0.025), respectively. However, the C1236T T allele did not seemed to influence the response to AEDs (ORs* = 1.14; 95%CI = [0.53–3.88]; p = 0.471). Haplotypic analysis indicated high-degree linkage disequilibrium of ABCB1 polymorphisms. Our results showed a synergic effect, in fact patients with the CTT and TTT haplotypes were more likely to be drug resistant than patients with the CGC haplotype, these associations remained significant even after adjustment for confounding parameters (ORs* = 2.68; 95%CI = [1.11–8.25]; p = 0.033 and ORs* = 3.76; 95%CI = [1.69–21.05]; p = 0.006, respectively). Conclusion: The G2677T T and C3435T T alleles as well as the TT, CTT and TTT haplotypes seemed to be significantly associated with drug-resistance epilepsy in our population. Genetic predisposition, involved in this resistance, may contribute to the establishment of a personal optimized therapy for newly diagnosed epileptic patients.

Homocystéine et statut antioxydant en hémodialyse pédiatrique

Resume Les perturbations metaboliques dans l’insuffisance renale chronique terminale traitee par hemodialyse sont multiples. Nous nous sommes interesses dans cette etude aux dosages de l’homocysteine et a deux marqueurs du statut antioxydant : la super oxyde dismutase (SOD) et le statut antioxydant total (SAT). Les 17 patients etudies sont atteints d’une insuffisance renale chronique et traites par hemodialyse dans le service de pediatrie depuis 12,5 ± 7,6 mois et pendant une duree moyenne de 12 heures par semaine. Ils sont tous supplementes en folates et certains en vitamines B6 et B12. Les dosages de l’homocysteine totale plasmatique avant et apres hemodialyse et de la vitamine B12 ont ete effectues par des techniques immunometriques. La super oxyde dismutase (SOD) avant hemodialyse et le statut antioxydant total (SAT) avant et apres hemodialyse ont ete determines par des methodes colorimetriques. Des taux significativement augmentes (p